Mosaicism, 45, X or other cell line with abnormal sex chromosome

Description

A disease caused by embryonic fusion or the structural mutation of a sex chromosome early in embryonic development, resulting in a subset of cells in the body having one normal copy of the X chromosome and one abnormal sex chromosome. This disease may present with short stature, sexual organ dysfunction, or may be asymptomatic.

Index terms

Mosaicism, 45, X or other cell line with abnormal sex chromosome

Exclusions from above levels

LD2F.15 – Noonan syndrome
http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD50.00 – Karyotype 45, X
LD50.01 – Karyotype 46, X iso Xq
LD50.02 – Karyotype 46, X with abnormal sex chromosome, except iso Xq
LD50.03 – Mosaicism, 45, X, 46, XX or XY

Foundation entity

Mosaicism, 45, X or other cell line with abnormal sex chromosome – http://id.who.int/icd/entity/50021633

Part of: LD50.0: Turner syndrome › LD50: Number anomalies of chromosome X › 20: Developmental anomalies